STAR child Caela wearing a lion costume.


This is the English version, you find the original version below

We are the Schroeder family.

We have two lovely girls, Caela (born in 2001) and Abbi (born in 2003). Caela was diagnosed with Salla Disease in 2007 after a trip to the National Institute of Health in Bethesda, Maryland.

From the day Caela was born until today, I can easily sing "You Are My Sunshine" when I think of her. She is a beautiful child with a beautiful disposition. When we brought Caela home, she was a changed baby. It was like she knew that all was well because we were home. To this day, home is an important place for her.

When Caela was old enough to crawl and get into things, she did not seem to have much interest in the world around her. She began to crawl at about 11 months, and when she was old enough for solid foods, she fell in love with eating. This is one area where she does not need help; she can manipulate a spoon very well. When she was old enough to stand, she was unable to stand independently and seemed extremely rigid.

Caela seemed to grow fine, so we took her to see her pediatrician, who asked us if she had any loss of oxygen issues at birth. This raised some questions, and we started to wonder if she should have some intervention. We were contacted by our ISD, but we turned them away. We were in huge denial, but we did come around. One of the best steps we took was getting her help from them. The ISD assigned therapists who came into our home and evaluated Caela, finding a very happy, fun girl with some developmental delays. The evaluation put her about 6-8 months behind in her development. Caela loved it!

We were referred to a neurologist who evaluated her, ran some tests, and she had an MRI done. All of the tests came back negative, but the MRI looked very suspicious, so she had another one done to rule things out. This doctor was at a loss, so we were referred to a doctor at UofM's metabolic clinic. Caela was still progressing but not hitting milestones for her age. The doctor ran many tests, all of which returned negative results, so we were still at a loss. Caela was tested to see if she was a good fit for a study on rare white matter disorders, and she was. This sent us to more doctors, and the study was done at the National Institute of Health in Bethesda, Maryland in 2007.

The trip was uneventful and tiring, but it was an awesome place. The doctors were tremendously knowledgeable about many disorders and looked for everything. One thing they did not do was a test on Caela's urine that checked her Sialic output. After we returned home, they called, and we sent the sample back. Caela came back positive for Salla Disease.

In 2008, we received the genetic test showing the variation in gene SLC17A5 with the Finnish mutation R39C in both gene strings.

Knowing all of this and trying all of the different techniques with nutrition, therapies, interventions with equipment, medical appointments, and just every day with Caela is like unlocking a puzzle box. We are very lucky parents to have two beautiful girls, both growing into beautiful young ladies. Caela is a puzzle, but every day with her is a blessing. She has a smile on her face, a wonderful sense of humor, and a positive attitude. This makes us very grateful that God chose us to raise such a special person.

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